Publications by authors named "J J Berzas Nevado"
Article Synopsis
- - Type 2 diabetes mellitus (T2DM) significantly impacts the quality of life for many Filipinos, with genetic factors contributing to 30-70% of the disease risk.
- - This study examined the genetic variants linked to T2DM among Filipinos by comparing 66 individuals with diabetes to 121 without, identifying nine significant genetic variants tied to glucose and energy metabolism.
- - Key variants, particularly CDKAL1 (rs7766070), show the highest risk levels, suggesting their potential use as markers for early detection and prevention of T2DM in the Filipino population.
We identified an AMOTL1 variant in a patient that adds evidence supporting the clinical and molecular overlap between AMOTL1-related disorders and other syndromes affecting craniofacial, cardiac, and hepatic development. As more cases are identified, we propose naming this entity as AMOTL1-associated multiple congenital anomalies or craniofaciocardiohepatic syndrome (CFCHS).
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- - The 2q31 deletion is linked to a specific set of features including developmental delays, short stature, distinct facial traits (like microcephaly and ear deformities), and limb defects, identified in 38 patients so far.
- - An 8-year-old girl with symptoms resembling velocardiofacial syndrome was diagnosed with a 2q31 microdeletion, confirmed through genetic testing that showed a non-continuous deletion between certain cytobands, along with treatment for her speech and swallowing difficulties.
- - This case is the first recorded instance of a complex deletion in the 2q31 regions, enhancing knowledge about the conditions linked to these genetic changes, and highlights the importance of advanced diagnostic methods to distinguish it
Article Synopsis
- The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
- Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
- The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
Article Synopsis
- The 22q11.2 region is prone to genetic changes that can lead to several disorders, such as 22q11.2 microdeletion syndrome and Emanuel Syndrome.
- This study examines mortality rates, average age at death, and risk factors in 223 confirmed patients with 22q11.2 rearrangements, revealing that 21 (9.4%) of them died, predominantly in early childhood.
- Key findings show that 71.42% of deaths were due to cardiac causes, with a median age of death of 3 months and 18 days, contributing valuable data on mortality associated with these genetic disorders.